developmental and epileptic encephalopathy 83

Summary
Synonym
  • DEE83
  • early infantile epileptic encephalopathy 83
Definition
A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the UGP2 gene on chromosome 2p15.
Super Class
autosomal recessive disease developmental and epileptic encephalopathy
Disease Ontology
DOID:0112218
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7360 UGP2 UDP-glucose pyrophosphorylase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
216558 Ugp2 UDP-glucose pyrophosphorylase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
853830 UGP1 UTP glucose-1-phosphate uridylyltransferase
The Human Phenotype Ontology
Displaying entries 11 - 20 of 31 in total
HPO ID HPO Term
HP:0000817 Reduced eye contact
HP:0011344 Severe global developmental delay
HP:0001347 Hyperreflexia
HP:0000343 Long philtrum
HP:0002376 Developmental regression
HP:0000007 Autosomal recessive inheritance
HP:0002079 Hypoplasia of the corpus callosum
HP:0005280 Depressed nasal bridge
HP:0000664 Synophrys
HP:0009890 High anterior hairline
Displaying 1 entry
Gene ID Gene Symbol Description
7360 UGP2 UDP-glucose pyrophosphorylase 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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